Article

Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population

2019-02-05

Abstract excerpt

<h4>Summary</h4> Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy (UPD), the inheritance of both homologs of a chromosome from one parent with no representative copy from the other. Current understanding of UPD is limited to ~3,300 cases for which UPD was associated with clinical presentati...

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Literature Corpus work: 37fe3c17-c0f7-5e30-839e-cf3e185dd183
DOI: 10.1101/540955

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